Canonical Allele Identifier: CA385201030

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115655C>A (hg19) ; chr12:g.55721871C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721871C>A , CM000674.2:g.55721871C>A	GRCh38
NC_000012.11:g.56115655C>A , CM000674.1:g.56115655C>A	GRCh37
NC_000012.10:g.54401922C>A	NCBI36
NG_008606.1:g.6505C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.493C>A MANE Select	ENSP00000257895.6:p.Leu165Met
ENST00000257895.9:c.493C>A	ENSP00000257895.5:p.Leu165Met
ENST00000257899.3:c.508C>A
ENST00000547072.5:c.202C>A	ENSP00000449927.1:p.Leu68Met
ENST00000548082.1:c.493C>A	ENSP00000447128.1:p.Leu165Met
ENST00000548123.1:c.300+377C>A
ENST00000548486.1:n.503C>A
ENST00000550412.5:c.*165C>A	ENSP00000447650.1:n.*165C>A
ENST00000550608.1:n.632C>A
ENST00000551946.5:c.*296C>A	ENSP00000450201.1:n.*296C>A
ENST00000553160.1:n.406-324C>A
ENST00000553187.5:n.503C>A
NM_001199771.1:c.493C>A	NP_001186700.1:p.Leu165Met
NM_002905.3:c.493C>A	NP_002896.2:p.Leu165Met
NR_037658.1:n.552C>A
NM_001199771.2:c.493C>A	NP_001186700.1:p.Leu165Met
NM_002905.5:c.493C>A MANE Select	NP_002896.2:p.Leu165Met
NM_001199771.3:c.493C>A	NP_001186700.1:p.Leu165Met